ClinVar Miner

Variants in gene OAT with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000274.4(OAT):c.162C>A (p.Asn54Lys) rs121965048 0.00001
NM_000274.4(OAT):c.416T>G (p.Met139Arg) rs1043163922 0.00001
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu) rs386833595
NM_000274.4(OAT):c.192_193del (p.Gly65fs) rs386833600
NM_000274.4(OAT):c.461G>T (p.Arg154Leu) rs121965039
NM_000274.4(OAT):c.472_486del (p.Tyr158_Gly162del) rs386833611
NM_000274.4(OAT):c.583G>T (p.Asp195Tyr) rs386833614

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